Your prenatal testing journey
Tests and screenings can help you better understand any potential risks to your baby’s health before pregnancy, and help you monitor their development at every stage.
Types of testing
As your baby grows, so can your knowledge about the types of testing available before and during pregnancy. Here are some common screenings and tests to familiarize yourself with as you navigate your pregnancy.
Prenatal screening
A safe and simple way to screen prenatal DNA and learn about your baby’s risk for certain conditions. Although not a specific diagnosis, screening can help give you peace of mind, or guide your next steps during your pregnancy.
Diagnostic testing
These tests can sometimes be more invasive, but may be necessary to confirm whether your baby has a certain condition, giving you time to prepare as you plan for what’s ahead.
What conditions do these tests typically screen for?
These are a few of the more commonly discussed conditions when it comes to screening and diagnostic testing:
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Cystic fibrosis
- Sickle cell anemia
- Tay-Sachs disease
- Fragile X syndrome
- Neural tube defects
- Spinal muscular atrophy (SMA)
- Hemophilia
1st Trimester
Before or during pregnancy
Before or during pregnancy
Carrier screening
Experts recommend this screening for anyone trying to conceive or already pregnant. It checks the parents’ DNA for genetic conditions that could be passed to the baby. If both parents have a change in the same gene, in most cases, there’s a 25% chance that your baby will inherit the genetic change from both parents and develop symptoms. On the rare chance that your baby is at risk, knowing early helps you prepare and plan with your healthcare team. If you’re interested in carrier screening, the Foresight™ Carrier Screen offers the highest published at-risk couple detection rate for serious inherited conditions.1
Six weeks
Six weeks
Gender test
An at-home test will let you know exactly what to expect. The SneakPeek® test looks for Y chromosomes in your blood to predict the sex of your baby with more than 99% accuracy.2
Seven to 10 weeks
Seven to 10 weeks
Dating scan/ultrasound
To make sure everything is progressing smoothly, this quick and easy scan helps determine how far along you are, gives you a clearer idea of your due date, and checks things like the baby’s heartbeat, overall development, and whether you’re expecting more than one baby.
Eight weeks
Eight weeks
Cell-free DNA (cfDNA) screening
For a more detailed view of your baby’s health, a cfDNA screening is recommended to check your baby’s chromosomes for specific conditions, helping you feel more confident and informed as you continue on your path to parenthood. For reliable insights, the Prequel® Prenatal Screen is the only cfDNA screen that is available at eight weeks, and delivers results to over 99.9% of patients on the first draw, regardless of ancestry or BMI.3,4,5
2nd Trimester
12 weeks
12 weeks
Nuchal translucency ultrasound
For more guidance on next steps in your prenatal journey, this non-invasive scan measures the amount of fluid at the back of your baby’s neck. This measurement offers helpful insights into your baby’s development.
~10-13 WEEKS
~10-13 WEEKS
Chorionic villus sampling (CVS)
If your doctor needs more detailed information about your baby’s genetic health, they may suggest a CVS test to detect possible genetic conditions early in pregnancy. While it’s more invasive, it offers more certainty, helping you plan for the future.
~15-20 WEEKS
~15-20 WEEKS
Amniocentesis
If ultrasounds and screenings show any potential concern, or if you are considered to be of advanced maternal age, your doctor may recommend a diagnostic procedure to more closely analyze the baby’s DNA in the amniotic fluid, so they can determine if your baby has a genetic condition.
20 weeks
20 weeks
Anatomy scan/ultrasound
To dive deeper into your baby’s development, doctors use this scan to get a clearer picture of your baby’s organs and internal structures so they can check for any congenital conditions or physical abnormalities, such as heart defects or spinal issues.
REFERENCES
- Hogan GJ, et al. Validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy number variant identification. Clin. Chem.2018;64(7):1063-1073. doi:10.1373/clinchem.2018.286823.
- https://sneakpeektest.com/wp-content/uploads/2021/01/Large-scale-follow-up-research-study-SneakPeek-Early-Gender-DNA-Test-99.9-Accurate.pdf
- Welker et al. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med 23, 443–450 (2021).
- Hancock S, Ben-Shachar R, Adusei C, et al. Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate. Ultrasound Obstet Gynecol. 2020;56(3):422-430. doi:10.1002/uog.21904.
- Hammer C, Pierson S, Acevedo A, Goldberg J, Westover T, Chawla D, Mabey B, Muzzey D, Johansen Taber K. High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification. Prenat Diagn. Epub 2024. doi: 10.1002/pd.6562
